rs1563945076, APTX

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Torticollis
CUI: C0040485
Disease: Torticollis
10 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
19 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0